Implementation of an optimized strategy for genetic testing of the Chinese patients with oculocutaneous albinism

Case Report Identification of a novel SLC45A2 mutation in albinism by targeted next-generation sequencing

“…The diseasecausing mutation (c.478 G>C) in SLC45A2 has been previously reported by Wei et al (2011) and verified by Sanger sequencing ( Figure 1C). Additionally, a novel mutation (c.1456 G>A) was identified in SLC45A2.…”

Prenatal Genotyping of Four Common Oculocutaneous Albinism Genes in 51 Chinese Families

“…The p.S192Y of TYR has been reported as an SNP (rs1042502) in Caucasians, Africans, and South Asians and is associated with skin color (Miyamura et al, 2005b;Stokowski et al, 2007;Hutton and Spritz, 2008a). However, the Y192 allele is not present in the non-OCA Chinese or Japanese subjects, which is supposed to be pathological when coexisting with another pathological allele in Chinese OCA patients (Miyamura et al, 2005b;Wei et al, 2010Wei et al, , 2011. Our transfection assays revealed less pigment production compared to the wild-type TYR, suggesting the Y192 allele results in less tyrosinase activity compared to the S192 allele.…”

Oculocutaneous albinism: Developing novel antibodies targeting the proteins associated with OCA2 and OCA4

“…OCA1 (MIM 203100) and OCA3 (MIM 203290) have been associated with mutations in the genes encoding tyrosinase (TYR) and tyrosinaserelated protein (TYRP1), respectively [6][7][8][9][10]. Both OCA1 and OCA3 result from the aberrant processing of TYR in the ER and its subsequent degradation in proteasomes, which causes the reduced pigment synthesis.…”